DisGeNET - a database of gene-disease associations

SMS, spermine synthase, 6611

N. diseases: 263; N. variants: 9

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs267607076

Entrez Id:	6611
Gene Symbol:	SMS

SMS

CUI:	C0796160
Disease:

MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE

0.810

GeneticVariation

UNIPROT

Snyder-Robinson syndrome: a novel nonsense mutation in spermine synthase and expansion of the phenotype.

23897707

2013

dbSNP:

rs267607076

Entrez Id:	6611
Gene Symbol:	SMS

SMS

CUI:	C0796160
Disease:

MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE

0.810

GeneticVariation

UNIPROT

A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome.

23696453

2013

dbSNP:

rs397515550

Entrez Id:	6611
Gene Symbol:	SMS

SMS

CUI:	C0796160
Disease:

MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE

0.810

GeneticVariation

UNIPROT

A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome.

23696453

2013

dbSNP:

rs397515550

Entrez Id:	6611
Gene Symbol:	SMS

SMS

CUI:	C0796160
Disease:

MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE

0.810

GeneticVariation

UNIPROT

We describe the first Italian patient with Snyder-Robinson syndrome and a novel nonsense mutation in SMS (c.200G>A; p.G67X).

23897707

2013

dbSNP:

rs397515550

Entrez Id:	6611
Gene Symbol:	SMS

SMS

CUI:	C0796160
Disease:

MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE

0.810

GeneticVariation

BEFREE

We describe the first Italian patient with Snyder-Robinson syndrome and a novel nonsense mutation in SMS (c.200G>A; p.G67X).

23897707

2013

dbSNP:

rs397515553

Entrez Id:	6611
Gene Symbol:	SMS

SMS

CUI:	C0796160
Disease:

MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE

0.810

GeneticVariation

UNIPROT

Snyder-Robinson syndrome: a novel nonsense mutation in spermine synthase and expansion of the phenotype.

23897707

2013

dbSNP:

rs397515553

Entrez Id:	6611
Gene Symbol:	SMS

SMS

CUI:	C0796160
Disease:

MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE

0.810

GeneticVariation

UNIPROT

A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome.

23696453

2013

dbSNP:

rs397515553

Entrez Id:	6611
Gene Symbol:	SMS

SMS

CUI:	C0796160
Disease:

MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE

0.810

GeneticVariation

BEFREE

A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome.

23696453

2013

dbSNP:

rs267607076

Entrez Id:	6611
Gene Symbol:	SMS

SMS

CUI:	C0796160
Disease:

MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE

0.810

GeneticVariation

UNIPROT

Targeted next generation sequencing as a diagnostic tool in epileptic disorders.

22612257

2012

dbSNP:

rs397515550

Entrez Id:	6611
Gene Symbol:	SMS

SMS

CUI:	C0796160
Disease:

MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE

0.810

GeneticVariation

UNIPROT

Targeted next generation sequencing as a diagnostic tool in epileptic disorders.

22612257

2012

dbSNP:

rs397515553

Entrez Id:	6611
Gene Symbol:	SMS

SMS

CUI:	C0796160
Disease:

MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE

0.810

GeneticVariation

UNIPROT

Targeted next generation sequencing as a diagnostic tool in epileptic disorders.

22612257

2012

dbSNP:

rs267607076

Entrez Id:	6611
Gene Symbol:	SMS

SMS

CUI:	C0796160
Disease:

MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE

0.810

GeneticVariation

BEFREE

A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome.

19206178

2009

dbSNP:

rs267607076

Entrez Id:	6611
Gene Symbol:	SMS

SMS

CUI:	C0796160
Disease:

MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE

0.810

GeneticVariation

UNIPROT

A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome.

19206178

2009

dbSNP:

rs397515550

Entrez Id:	6611
Gene Symbol:	SMS

SMS

CUI:	C0796160
Disease:

MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE

0.810

GeneticVariation

UNIPROT

A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome.

19206178

2009

dbSNP:

rs397515553

Entrez Id:	6611
Gene Symbol:	SMS

SMS

CUI:	C0796160
Disease:

MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE

0.810

GeneticVariation

UNIPROT

A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome.

19206178

2009

dbSNP:

rs267607076

Entrez Id:	6611
Gene Symbol:	SMS

SMS

CUI:	C0796160
Disease:

MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE

0.810

GeneticVariation

UNIPROT

New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome.

18550699

2008

dbSNP:

rs397515550

Entrez Id:	6611
Gene Symbol:	SMS

SMS

CUI:	C0796160
Disease:

MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE

0.810

GeneticVariation

UNIPROT

New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome.

18550699

2008

dbSNP:

rs397515553

Entrez Id:	6611
Gene Symbol:	SMS

SMS

CUI:	C0796160
Disease:

MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE

0.810

GeneticVariation

UNIPROT

New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome.

18550699

2008

dbSNP:

rs267607076

Entrez Id:	6611
Gene Symbol:	SMS

SMS

CUI:	C0796160
Disease:

MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE

0.810

GeneticVariation

UNIPROT

X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome.

14508504

2003

dbSNP:

rs397515550

Entrez Id:	6611
Gene Symbol:	SMS

SMS

CUI:	C0796160
Disease:

MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE

0.810

GeneticVariation

UNIPROT

X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome.

14508504

2003

dbSNP:

rs397515553

Entrez Id:	6611
Gene Symbol:	SMS

SMS

CUI:	C0796160
Disease:

MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE

0.810

GeneticVariation

UNIPROT

X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome.

14508504

2003

dbSNP:

rs267607076

Entrez Id:	6611
Gene Symbol:	SMS

SMS

CUI:	C0796160
Disease:

MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE

0.810

CausalMutation

CLINVAR

dbSNP:

rs397515550

Entrez Id:	6611
Gene Symbol:	SMS

SMS

CUI:	C0796160
Disease:

MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE

0.810

CausalMutation

CLINVAR

dbSNP:

rs397515553

Entrez Id:	6611
Gene Symbol:	SMS

SMS

CUI:	C0796160
Disease:

MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE

0.810

CausalMutation

CLINVAR

dbSNP:

rs397515553

Entrez Id:	6611
Gene Symbol:	SMS

SMS

CUI:	C0796160
Disease:

MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE

0.810

CausalMutation

CLINVAR